CLSI NBS12
Newborn Screening for Galactosemias
CLSI NBS12 describes a newborn screening (NBS) system for identifying presymptomatic newborns at increased risk for 1 or more of the galactosemias, enabling early detection, diagnosis, and the rapid treatment needed to prevent acute morbidity and mortality. CLSI NBS12 discusses biological and clinical features of classic galactosemia, which is a primary target of most NBS programs, and explains the assays used for screening tests performed on newborn dried blood spot specimens, screening strategies, and short-term and long-term follow-up. Different forms of galactosemia that can also be identified by some NBS program approaches are briefly described.
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{{FormatPrice(nonMemberPrice)}} List PriceCLSI NBS12—Newborn Screening for Galactosemias describes newborn screening (NBS) strategies and methods used worldwide to identify newborns at increased risk for classic galactosemia (CG) and in some cases variant forms of galactosemia. CG is a potentially lethal autosomal recessive disease that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the middle enzyme of the Leloir pathway of galactose metabolism. Variant forms of galactosemia result either from partial deficiency of GALT (eg, Duarte galactosemia) or from deficiency of other enzymes important for the efficient metabolism of galactose (eg, galactokinase, UDP-galactose 4’-epimerase, or galactose mutarotase). The birth prevalence of CG varies broadly by ancestral group; in diverse populations, such as in the United States, CG affects approximately 1 in 50 000 newborns screened at birth. Most newborns with CG are born appearing apparently healthy but present with rapidly escalating and potentially lethal acute symptoms following exposure to milk, which contains abundant galactose. Early, often presymptomatic identification of CG by NBS can be lifesaving as it enables immediate dietary restriction of galactose, preventing or resolving the acute symptoms of disease. CLSI NBS12 describes the laboratory screening tests used to detect CG, as well as the various screening algorithms in use, explaining the benefits and limitations of each. CLSI NBS12 also explains which tests and algorithms enable or exclude detection of the different variant forms of galactosemia that might or might not be targets of NBS. CLSI NBS12 is intended for use by health care providers; birthing facilities; follow-up and program personnel; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; geneticists; NBS laboratories; regulatory agencies; public health policymakers; and manufacturers of instruments, reagents, and related NBS products.
CLSI NBS12 specifies recommendations for newborn screening (NBS) for galactosemias and routine use of dried blood spot (DBS) specimens for identifying potentially affected newborns. CLSI NBS12 also discusses the preanalytical, analytical, and postanalytical activities of existing NBS for galactosemias, including short-term follow-up (STFU) and long-term follow-up (LTFU) considerations.
CLSI NBS12 includes background information on the biological and clinical features of classic galactosemia (CG), a disease of carbohydrate metabolism that is often a primary target of NBS, and to a lesser extent of variant forms of galactosemia, that might or might not be targets or secondary findings for different NBS programs. It provides descriptions of the different methodologies and screening algorithms and discusses preanalytical, analytical, and postanalytical issues for laboratory practices. Also, CLSI NBS12 includes a discussion of STFU and LTFU procedures, including case tracking, as well as the diagnostic tests needed to confirm a CG diagnosis.
The intended users of CLSI NBS12 are NBS laboratories; follow-up and program personnel; birthing facilities; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; geneticists; other health care providers (HCPs); regulatory agencies; public health policymakers; and manufacturers of instruments, reagents, and related NBS products.
CLSI NBS12 does not cover:
- Laboratory testing performed to confirm or exclude a diagnosis (ie, diagnostic testing)
- Detailed recommendations for diagnosis, treatment, or LTFU care of CG
- Comparative cost information
This document is available in electronic format only.
CLSI NBS12—Newborn Screening for Galactosemias describes newborn screening (NBS) strategies and methods used worldwide to identify newborns at increased risk for classic galactosemia (CG) and in some cases variant forms of galactosemia. CG is a potentially lethal autosomal recessive disease that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the middle enzyme of the Leloir pathway of galactose metabolism. Variant forms of galactosemia result either from partial deficiency of GALT (eg, Duarte galactosemia) or from deficiency of other enzymes important for the efficient metabolism of galactose (eg, galactokinase, UDP-galactose 4’-epimerase, or galactose mutarotase). The birth prevalence of CG varies broadly by ancestral group; in diverse populations, such as in the United States, CG affects approximately 1 in 50 000 newborns screened at birth. Most newborns with CG are born appearing apparently healthy but present with rapidly escalating and potentially lethal acute symptoms following exposure to milk, which contains abundant galactose. Early, often presymptomatic identification of CG by NBS can be lifesaving as it enables immediate dietary restriction of galactose, preventing or resolving the acute symptoms of disease. CLSI NBS12 describes the laboratory screening tests used to detect CG, as well as the various screening algorithms in use, explaining the benefits and limitations of each. CLSI NBS12 also explains which tests and algorithms enable or exclude detection of the different variant forms of galactosemia that might or might not be targets of NBS. CLSI NBS12 is intended for use by health care providers; birthing facilities; follow-up and program personnel; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; geneticists; NBS laboratories; regulatory agencies; public health policymakers; and manufacturers of instruments, reagents, and related NBS products.
CLSI NBS12 specifies recommendations for newborn screening (NBS) for galactosemias and routine use of dried blood spot (DBS) specimens for identifying potentially affected newborns. CLSI NBS12 also discusses the preanalytical, analytical, and postanalytical activities of existing NBS for galactosemias, including short-term follow-up (STFU) and long-term follow-up (LTFU) considerations.
CLSI NBS12 includes background information on the biological and clinical features of classic galactosemia (CG), a disease of carbohydrate metabolism that is often a primary target of NBS, and to a lesser extent of variant forms of galactosemia, that might or might not be targets or secondary findings for different NBS programs. It provides descriptions of the different methodologies and screening algorithms and discusses preanalytical, analytical, and postanalytical issues for laboratory practices. Also, CLSI NBS12 includes a discussion of STFU and LTFU procedures, including case tracking, as well as the diagnostic tests needed to confirm a CG diagnosis.
The intended users of CLSI NBS12 are NBS laboratories; follow-up and program personnel; birthing facilities; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; geneticists; other health care providers (HCPs); regulatory agencies; public health policymakers; and manufacturers of instruments, reagents, and related NBS products.
CLSI NBS12 does not cover:
- Laboratory testing performed to confirm or exclude a diagnosis (ie, diagnostic testing)
- Detailed recommendations for diagnosis, treatment, or LTFU care of CG
- Comparative cost information
This document is available in electronic format only.